SNP Links for Gene (Select 1374) - SNP

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Select item 14915392741.

rs1491539274 has merged into rs35591039 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA,CACACA [Show Flanks]
Chromosome:: 11:68790481 (GRCh38)
11:68557949 (GRCh37)
Canonical SPDI:: NC_000011.10:68790469:ACACACACACACA:ACACACACACA,NC_000011.10:68790469:ACACACACACACA:ACACACACACACACA,NC_000011.10:68790469:ACACACACACACA:ACACACACACACACACA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0.022638/345 (ALFA)
AC=0.033104/166 (1000Genomes)
AC=0.042508/5954 (GnomAD)
AC=0.051667/31 (NorthernSweden)
AC=0.064509/289 (Estonian)
HGVS:: NC_000011.10:g.68790471CA[5], NC_000011.10:g.68790471CA[7], NC_000011.10:g.68790471CA[8], NC_000011.9:g.68557939CA[5], NC_000011.9:g.68557939CA[7], NC_000011.9:g.68557939CA[8], NG_011801.1:g.56451GT[5], NG_011801.1:g.56451GT[7], NG_011801.1:g.56451GT[8]

Select item 14915220612.

rs1491522061 has merged into rs753779449 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAAAA [Show Flanks]
Chromosome:: 11:68799181 (GRCh38)
11:68566649 (GRCh37)
Canonical SPDI:: NC_000011.10:68799179:AAAAA:A,NC_000011.10:68799179:AAAAA:AA,NC_000011.10:68799179:AAAAA:AAA,NC_000011.10:68799179:AAAAA:AAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.467661/11323 (ALFA)
AAA=0.1/4 (GENOME_DK)
AAA=0.123333/74 (NorthernSweden)
AAA=0.125893/564 (Estonian)
AAA=0.134086/2247 (TOMMO)
AAA=0.143559/263 (Korea1K)
AAA=0.146025/36058 (GnomAD_exomes)
AAA=0.156777/1004 (1000Genomes)
HGVS:: NC_000011.10:g.68799181_68799184del, NC_000011.10:g.68799182_68799184del, NC_000011.10:g.68799183_68799184del, NC_000011.10:g.68799184dup, NC_000011.9:g.68566649_68566652del, NC_000011.9:g.68566650_68566652del, NC_000011.9:g.68566651_68566652del, NC_000011.9:g.68566652dup, NG_011801.1:g.47749_47752del, NG_011801.1:g.47750_47752del, NG_011801.1:g.47751_47752del, NG_011801.1:g.47752dup

Select item 14914756763.

rs1491475676 has merged into rs11311321 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 11:68803856 (GRCh38)
11:68571324 (GRCh37)
Canonical SPDI:: NC_000011.10:68803844:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:68803844:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:68803844:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:68803844:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000045/12 (TOPMED)
-=0.00092/15 (TOMMO)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000011.10:g.68803856_68803858del, NC_000011.10:g.68803857_68803858del, NC_000011.10:g.68803858del, NC_000011.10:g.68803858dup, NC_000011.9:g.68571324_68571326del, NC_000011.9:g.68571325_68571326del, NC_000011.9:g.68571326del, NC_000011.9:g.68571326dup, NG_011801.1:g.43085_43087del, NG_011801.1:g.43086_43087del, NG_011801.1:g.43087del, NG_011801.1:g.43087dup

Select item 14914697554.

rs1491469755 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 11:68817751 (GRCh38)
11:68585220 (GRCh37)
Canonical SPDI:: NC_000011.10:68817751:G:GCG
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.000281/30 (GnomAD)
HGVS:: NC_000011.10:g.68817752_68817753insCG, NC_000011.9:g.68585220_68585221insCG, NG_011801.1:g.29180_29181insGC

Select item 14914072765.

rs1491407276 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:68841743 (GRCh38)
11:68609212 (GRCh37)
Canonical SPDI:: NC_000011.10:68841743:A:AA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.68841744dup, NC_000011.9:g.68609212dup, NG_011801.1:g.5188dup

Select item 14913843626.

rs1491384362 has merged into rs377721687 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 11:68785577 (GRCh38)
11:68553045 (GRCh37)
Canonical SPDI:: NC_000011.10:68785563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:68785563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:68785563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:68785563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:68785563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:68785563:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.375/3 (KOREAN)
HGVS:: NC_000011.10:g.68785577_68785580del, NC_000011.10:g.68785579_68785580del, NC_000011.10:g.68785580del, NC_000011.10:g.68785580dup, NC_000011.10:g.68785579_68785580dup, NC_000011.10:g.68785577_68785580dup, NC_000011.9:g.68553045_68553048del, NC_000011.9:g.68553047_68553048del, NC_000011.9:g.68553048del, NC_000011.9:g.68553048dup, NC_000011.9:g.68553047_68553048dup, NC_000011.9:g.68553045_68553048dup, NG_011801.1:g.61365_61368del, NG_011801.1:g.61367_61368del, NG_011801.1:g.61368del, NG_011801.1:g.61368dup, NG_011801.1:g.61367_61368dup, NG_011801.1:g.61365_61368dup

Select item 14913666847.

rs1491366684 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:68813529 (GRCh38)
11:68580997 (GRCh37)
Canonical SPDI:: NC_000011.10:68813528:CA:
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00185/22 (ALFA)
HGVS:: NC_000011.10:g.68813529_68813530del, NC_000011.9:g.68580997_68580998del, NG_011801.1:g.33402_33403del

Select item 14913562118.

rs1491356211 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAAAAAAA,TAAAA,TAAAAAAA,TAAAAAAAA,TAAAAAAAAA,TAAAAAAAAAA,TAAAAAAAAAAA,TAAAAAAAAAAAA,TAAAAAAAAAAAAA,TAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAAAAA,TTAAAAAA,TTAAAAAAA,TTAAAAAAAA,TTAAAAAAAAA,TTAAAAAAAAAAA,TTAAAAAAAAAAAAAAAAA,TTAAAAAAAAAAAAAAAAAA,TTTAAAAA,TTTAAAAAA [Show Flanks]
Chromosome:: 11:68838572 (GRCh38)
11:68606041 (GRCh37)
Canonical SPDI:: NC_000011.10:68838572::CAAAAAAAA,NC_000011.10:68838572::TAAAA,NC_000011.10:68838572::TAAAAAAA,NC_000011.10:68838572::TAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TTAAAAAA,NC_000011.10:68838572::TTAAAAAAA,NC_000011.10:68838572::TTAAAAAAAA,NC_000011.10:68838572::TTAAAAAAAAA,NC_000011.10:68838572::TTAAAAAAAAAAA,NC_000011.10:68838572::TTAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TTAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572::TTTAAAAA,NC_000011.10:68838572::TTTAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.68838572_68838573insCAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTTAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838572_68838573insTTTAAAAA, NC_000011.10:g.68838572_68838573insTTTAAAAAA, NC_000011.9:g.68606040_68606041insCAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTTAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606040_68606041insTTTAAAAA, NC_000011.9:g.68606040_68606041insTTTAAAAAA, NG_011801.1:g.8359_8360insTTTTTTTTG, NG_011801.1:g.8359_8360insTTTTA, NG_011801.1:g.8359_8360insTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTTTTTTTA, NG_011801.1:g.8359_8360insTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTAA, NG_011801.1:g.8359_8360insTTTTTAAA, NG_011801.1:g.8359_8360insTTTTTTAAA

Select item 14912747539.

rs1491274753 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAACAAAA [Show Flanks]
Chromosome:: 11:68838573 (GRCh38)
11:68606042 (GRCh37)
Canonical SPDI:: NC_000011.10:68838573:AAAA:AAAACAAAACAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAACAAAA=0./0 (ALFA)
AAAACAAAAC=0.000039/4 (GnomAD)
HGVS:: NC_000011.10:g.68838577_68838578insCAAAACAAAA, NC_000011.9:g.68606045_68606046insCAAAACAAAA, NG_011801.1:g.8358_8359insGTTTTGTTTT

Select item 149126938810.

rs1491269388 has merged into rs113196178 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 11:68817758 (GRCh38)
11:68585226 (GRCh37)
Canonical SPDI:: NC_000011.10:68817750:GGGGGGGGG:GGGGGGG,NC_000011.10:68817750:GGGGGGGGG:GGGGGGGG,NC_000011.10:68817750:GGGGGGGGG:GGGGGGGGGG,NC_000011.10:68817750:GGGGGGGGG:GGGGGGGGGGG,NC_000011.10:68817750:GGGGGGGGG:GGGGGGGGGGGG
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000072/19 (TOPMED)
G=0.026957/135 (1000Genomes)
G=0.044118/21 (NorthernSweden)
HGVS:: NC_000011.10:g.68817758_68817759del, NC_000011.10:g.68817759del, NC_000011.10:g.68817759dup, NC_000011.10:g.68817758_68817759dup, NC_000011.10:g.68817757_68817759dup, NC_000011.9:g.68585226_68585227del, NC_000011.9:g.68585227del, NC_000011.9:g.68585227dup, NC_000011.9:g.68585226_68585227dup, NC_000011.9:g.68585225_68585227dup, NG_011801.1:g.29180_29181del, NG_011801.1:g.29181del, NG_011801.1:g.29181dup, NG_011801.1:g.29180_29181dup, NG_011801.1:g.29179_29181dup

Select item 149123709711.

rs1491237097 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:68788629 (GRCh38)
11:68556098 (GRCh37)
Canonical SPDI:: NC_000011.10:68788629::A,NC_000011.10:68788629::AA,NC_000011.10:68788629::AAA,NC_000011.10:68788629::AAAA,NC_000011.10:68788629::AAAAAAAAAAAAAAAAA,NC_000011.10:68788629::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.00023/3 (TOMMO)
HGVS:: NC_000011.10:g.68788629_68788630insA, NC_000011.10:g.68788629_68788630insAA, NC_000011.10:g.68788629_68788630insAAA, NC_000011.10:g.68788629_68788630insAAAA, NC_000011.10:g.68788629_68788630insAAAAAAAAAAAAAAAAA, NC_000011.10:g.68788629_68788630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68556097_68556098insA, NC_000011.9:g.68556097_68556098insAA, NC_000011.9:g.68556097_68556098insAAA, NC_000011.9:g.68556097_68556098insAAAA, NC_000011.9:g.68556097_68556098insAAAAAAAAAAAAAAAAA, NC_000011.9:g.68556097_68556098insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011801.1:g.58302_58303insT, NG_011801.1:g.58302_58303insTT, NG_011801.1:g.58302_58303insTTT, NG_011801.1:g.58302_58303insTTTT, NG_011801.1:g.58302_58303insTTTTTTTTTTTTTTTTT, NG_011801.1:g.58302_58303insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149122652812.

rs1491226528 has merged into rs901808584 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:68802900 (GRCh38)
11:68570368 (GRCh37)
Canonical SPDI:: NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.68802900_68802920del, NC_000011.10:g.68802905_68802920del, NC_000011.10:g.68802908_68802920del, NC_000011.10:g.68802909_68802920del, NC_000011.10:g.68802910_68802920del, NC_000011.10:g.68802911_68802920del, NC_000011.10:g.68802912_68802920del, NC_000011.10:g.68802913_68802920del, NC_000011.10:g.68802914_68802920del, NC_000011.10:g.68802915_68802920del, NC_000011.10:g.68802916_68802920del, NC_000011.10:g.68802917_68802920del, NC_000011.10:g.68802918_68802920del, NC_000011.10:g.68802919_68802920del, NC_000011.10:g.68802920del, NC_000011.10:g.68802920dup, NC_000011.10:g.68802919_68802920dup, NC_000011.10:g.68802918_68802920dup, NC_000011.10:g.68802917_68802920dup, NC_000011.10:g.68802916_68802920dup, NC_000011.10:g.68802915_68802920dup, NC_000011.10:g.68802914_68802920dup, NC_000011.10:g.68802913_68802920dup, NC_000011.10:g.68802910_68802920dup, NC_000011.10:g.68802909_68802920dup, NC_000011.10:g.68802908_68802920dup, NC_000011.10:g.68802907_68802920dup, NC_000011.10:g.68802906_68802920dup, NC_000011.10:g.68802905_68802920dup, NC_000011.10:g.68802904_68802920dup, NC_000011.10:g.68802903_68802920dup, NC_000011.10:g.68802902_68802920dup, NC_000011.10:g.68802901_68802920dup, NC_000011.9:g.68570368_68570388del, NC_000011.9:g.68570373_68570388del, NC_000011.9:g.68570376_68570388del, NC_000011.9:g.68570377_68570388del, NC_000011.9:g.68570378_68570388del, NC_000011.9:g.68570379_68570388del, NC_000011.9:g.68570380_68570388del, NC_000011.9:g.68570381_68570388del, NC_000011.9:g.68570382_68570388del, NC_000011.9:g.68570383_68570388del, NC_000011.9:g.68570384_68570388del, NC_000011.9:g.68570385_68570388del, NC_000011.9:g.68570386_68570388del, NC_000011.9:g.68570387_68570388del, NC_000011.9:g.68570388del, NC_000011.9:g.68570388dup, NC_000011.9:g.68570387_68570388dup, NC_000011.9:g.68570386_68570388dup, NC_000011.9:g.68570385_68570388dup, NC_000011.9:g.68570384_68570388dup, NC_000011.9:g.68570383_68570388dup, NC_000011.9:g.68570382_68570388dup, NC_000011.9:g.68570381_68570388dup, NC_000011.9:g.68570378_68570388dup, NC_000011.9:g.68570377_68570388dup, NC_000011.9:g.68570376_68570388dup, NC_000011.9:g.68570375_68570388dup, NC_000011.9:g.68570374_68570388dup, NC_000011.9:g.68570373_68570388dup, NC_000011.9:g.68570372_68570388dup, NC_000011.9:g.68570371_68570388dup, NC_000011.9:g.68570370_68570388dup, NC_000011.9:g.68570369_68570388dup, NG_011801.1:g.44015_44035del, NG_011801.1:g.44020_44035del, NG_011801.1:g.44023_44035del, NG_011801.1:g.44024_44035del, NG_011801.1:g.44025_44035del, NG_011801.1:g.44026_44035del, NG_011801.1:g.44027_44035del, NG_011801.1:g.44028_44035del, NG_011801.1:g.44029_44035del, NG_011801.1:g.44030_44035del, NG_011801.1:g.44031_44035del, NG_011801.1:g.44032_44035del, NG_011801.1:g.44033_44035del, NG_011801.1:g.44034_44035del, NG_011801.1:g.44035del, NG_011801.1:g.44035dup, NG_011801.1:g.44034_44035dup, NG_011801.1:g.44033_44035dup, NG_011801.1:g.44032_44035dup, NG_011801.1:g.44031_44035dup, NG_011801.1:g.44030_44035dup, NG_011801.1:g.44029_44035dup, NG_011801.1:g.44028_44035dup, NG_011801.1:g.44025_44035dup, NG_011801.1:g.44024_44035dup, NG_011801.1:g.44023_44035dup, NG_011801.1:g.44022_44035dup, NG_011801.1:g.44021_44035dup, NG_011801.1:g.44020_44035dup, NG_011801.1:g.44019_44035dup, NG_011801.1:g.44018_44035dup, NG_011801.1:g.44017_44035dup, NG_011801.1:g.44016_44035dup

Select item 149122292013.

rs1491222920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:68823792 (GRCh38)
11:68591260 (GRCh37)
Canonical SPDI:: NC_000011.10:68823789:AAAA:AA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.00236/28 (ALFA)
HGVS:: NC_000011.10:g.68823792_68823793del, NC_000011.9:g.68591260_68591261del, NG_011801.1:g.23141_23142del

Select item 149121570014.

rs1491215700 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:68802896 (GRCh38)
11:68570364 (GRCh37)
Canonical SPDI:: NC_000011.10:68802895:CA:
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000011.10:g.68802896_68802897del, NC_000011.9:g.68570364_68570365del, NG_011801.1:g.44035_44036del

Select item 149120813615.

rs1491208136 has merged into rs10590789 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:68813540 (GRCh38)
11:68581008 (GRCh37)
Canonical SPDI:: NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68813529:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.3858/1932 (1000Genomes)
HGVS:: NC_000011.10:g.68813540_68813552del, NC_000011.10:g.68813541_68813552del, NC_000011.10:g.68813542_68813552del, NC_000011.10:g.68813543_68813552del, NC_000011.10:g.68813544_68813552del, NC_000011.10:g.68813545_68813552del, NC_000011.10:g.68813546_68813552del, NC_000011.10:g.68813547_68813552del, NC_000011.10:g.68813548_68813552del, NC_000011.10:g.68813549_68813552del, NC_000011.10:g.68813550_68813552del, NC_000011.10:g.68813551_68813552del, NC_000011.10:g.68813552del, NC_000011.10:g.68813552dup, NC_000011.10:g.68813551_68813552dup, NC_000011.10:g.68813550_68813552dup, NC_000011.10:g.68813549_68813552dup, NC_000011.9:g.68581008_68581020del, NC_000011.9:g.68581009_68581020del, NC_000011.9:g.68581010_68581020del, NC_000011.9:g.68581011_68581020del, NC_000011.9:g.68581012_68581020del, NC_000011.9:g.68581013_68581020del, NC_000011.9:g.68581014_68581020del, NC_000011.9:g.68581015_68581020del, NC_000011.9:g.68581016_68581020del, NC_000011.9:g.68581017_68581020del, NC_000011.9:g.68581018_68581020del, NC_000011.9:g.68581019_68581020del, NC_000011.9:g.68581020del, NC_000011.9:g.68581020dup, NC_000011.9:g.68581019_68581020dup, NC_000011.9:g.68581018_68581020dup, NC_000011.9:g.68581017_68581020dup, NG_011801.1:g.33390_33402del, NG_011801.1:g.33391_33402del, NG_011801.1:g.33392_33402del, NG_011801.1:g.33393_33402del, NG_011801.1:g.33394_33402del, NG_011801.1:g.33395_33402del, NG_011801.1:g.33396_33402del, NG_011801.1:g.33397_33402del, NG_011801.1:g.33398_33402del, NG_011801.1:g.33399_33402del, NG_011801.1:g.33400_33402del, NG_011801.1:g.33401_33402del, NG_011801.1:g.33402del, NG_011801.1:g.33402dup, NG_011801.1:g.33401_33402dup, NG_011801.1:g.33400_33402dup, NG_011801.1:g.33399_33402dup

Select item 149120504216.

rs1491205042 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:68838572 (GRCh38)
11:68606040 (GRCh37)
Canonical SPDI:: NC_000011.10:68838571:TA:
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/5 (GnomAD)
HGVS:: NC_000011.10:g.68838572_68838573del, NC_000011.9:g.68606040_68606041del, NG_011801.1:g.8359_8360del

Select item 149112850817.

rs1491128508 has merged into rs1210532617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:68838584 (GRCh38)
11:68606052 (GRCh37)
Canonical SPDI:: NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68838572:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.68838584_68838591del, NC_000011.10:g.68838586_68838591del, NC_000011.10:g.68838587_68838591del, NC_000011.10:g.68838588_68838591del, NC_000011.10:g.68838589_68838591del, NC_000011.10:g.68838590_68838591del, NC_000011.10:g.68838591del, NC_000011.10:g.68838591dup, NC_000011.10:g.68838590_68838591dup, NC_000011.10:g.68838589_68838591dup, NC_000011.10:g.68838588_68838591dup, NC_000011.10:g.68838587_68838591dup, NC_000011.10:g.68838586_68838591dup, NC_000011.10:g.68838585_68838591dup, NC_000011.10:g.68838584_68838591dup, NC_000011.10:g.68838583_68838591dup, NC_000011.10:g.68838582_68838591dup, NC_000011.10:g.68838581_68838591dup, NC_000011.10:g.68838580_68838591dup, NC_000011.10:g.68838579_68838591dup, NC_000011.10:g.68838578_68838591dup, NC_000011.10:g.68838577_68838591dup, NC_000011.10:g.68838576_68838591dup, NC_000011.10:g.68838575_68838591dup, NC_000011.10:g.68838574_68838591dup, NC_000011.10:g.68838573_68838591dup, NC_000011.10:g.68838591_68838592insAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838591_68838592insAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838591_68838592insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.68838591_68838592insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606052_68606059del, NC_000011.9:g.68606054_68606059del, NC_000011.9:g.68606055_68606059del, NC_000011.9:g.68606056_68606059del, NC_000011.9:g.68606057_68606059del, NC_000011.9:g.68606058_68606059del, NC_000011.9:g.68606059del, NC_000011.9:g.68606059dup, NC_000011.9:g.68606058_68606059dup, NC_000011.9:g.68606057_68606059dup, NC_000011.9:g.68606056_68606059dup, NC_000011.9:g.68606055_68606059dup, NC_000011.9:g.68606054_68606059dup, NC_000011.9:g.68606053_68606059dup, NC_000011.9:g.68606052_68606059dup, NC_000011.9:g.68606051_68606059dup, NC_000011.9:g.68606050_68606059dup, NC_000011.9:g.68606049_68606059dup, NC_000011.9:g.68606048_68606059dup, NC_000011.9:g.68606047_68606059dup, NC_000011.9:g.68606046_68606059dup, NC_000011.9:g.68606045_68606059dup, NC_000011.9:g.68606044_68606059dup, NC_000011.9:g.68606043_68606059dup, NC_000011.9:g.68606042_68606059dup, NC_000011.9:g.68606041_68606059dup, NC_000011.9:g.68606059_68606060insAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606059_68606060insAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606059_68606060insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.68606059_68606060insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011801.1:g.8352_8359del, NG_011801.1:g.8354_8359del, NG_011801.1:g.8355_8359del, NG_011801.1:g.8356_8359del, NG_011801.1:g.8357_8359del, NG_011801.1:g.8358_8359del, NG_011801.1:g.8359del, NG_011801.1:g.8359dup, NG_011801.1:g.8358_8359dup, NG_011801.1:g.8357_8359dup, NG_011801.1:g.8356_8359dup, NG_011801.1:g.8355_8359dup, NG_011801.1:g.8354_8359dup, NG_011801.1:g.8353_8359dup, NG_011801.1:g.8352_8359dup, NG_011801.1:g.8351_8359dup, NG_011801.1:g.8350_8359dup, NG_011801.1:g.8349_8359dup, NG_011801.1:g.8348_8359dup, NG_011801.1:g.8347_8359dup, NG_011801.1:g.8346_8359dup, NG_011801.1:g.8345_8359dup, NG_011801.1:g.8344_8359dup, NG_011801.1:g.8343_8359dup, NG_011801.1:g.8342_8359dup, NG_011801.1:g.8341_8359dup, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTT, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTT, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTTTT, NG_011801.1:g.8359_8360insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149106982518.

rs1491069825 has merged into rs71043448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:68768077 (GRCh38)
11:68535545 (GRCh37)
Canonical SPDI:: NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:68768066:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.68768077_68768093del, NC_000011.10:g.68768078_68768093del, NC_000011.10:g.68768079_68768093del, NC_000011.10:g.68768080_68768093del, NC_000011.10:g.68768081_68768093del, NC_000011.10:g.68768082_68768093del, NC_000011.10:g.68768083_68768093del, NC_000011.10:g.68768084_68768093del, NC_000011.10:g.68768085_68768093del, NC_000011.10:g.68768086_68768093del, NC_000011.10:g.68768087_68768093del, NC_000011.10:g.68768088_68768093del, NC_000011.10:g.68768089_68768093del, NC_000011.10:g.68768090_68768093del, NC_000011.10:g.68768091_68768093del, NC_000011.10:g.68768092_68768093del, NC_000011.10:g.68768093del, NC_000011.10:g.68768093dup, NC_000011.10:g.68768092_68768093dup, NC_000011.10:g.68768091_68768093dup, NC_000011.10:g.68768090_68768093dup, NC_000011.10:g.68768089_68768093dup, NC_000011.10:g.68768088_68768093dup, NC_000011.10:g.68768087_68768093dup, NC_000011.10:g.68768086_68768093dup, NC_000011.10:g.68768085_68768093dup, NC_000011.10:g.68768084_68768093dup, NC_000011.10:g.68768082_68768093dup, NC_000011.10:g.68768081_68768093dup, NC_000011.10:g.68768080_68768093dup, NC_000011.10:g.68768079_68768093dup, NC_000011.10:g.68768078_68768093dup, NC_000011.10:g.68768073_68768093dup, NC_000011.10:g.68768069_68768093dup, NC_000011.10:g.68768093_68768094insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.68535545_68535561del, NC_000011.9:g.68535546_68535561del, NC_000011.9:g.68535547_68535561del, NC_000011.9:g.68535548_68535561del, NC_000011.9:g.68535549_68535561del, NC_000011.9:g.68535550_68535561del, NC_000011.9:g.68535551_68535561del, NC_000011.9:g.68535552_68535561del, NC_000011.9:g.68535553_68535561del, NC_000011.9:g.68535554_68535561del, NC_000011.9:g.68535555_68535561del, NC_000011.9:g.68535556_68535561del, NC_000011.9:g.68535557_68535561del, NC_000011.9:g.68535558_68535561del, NC_000011.9:g.68535559_68535561del, NC_000011.9:g.68535560_68535561del, NC_000011.9:g.68535561del, NC_000011.9:g.68535561dup, NC_000011.9:g.68535560_68535561dup, NC_000011.9:g.68535559_68535561dup, NC_000011.9:g.68535558_68535561dup, NC_000011.9:g.68535557_68535561dup, NC_000011.9:g.68535556_68535561dup, NC_000011.9:g.68535555_68535561dup, NC_000011.9:g.68535554_68535561dup, NC_000011.9:g.68535553_68535561dup, NC_000011.9:g.68535552_68535561dup, NC_000011.9:g.68535550_68535561dup, NC_000011.9:g.68535549_68535561dup, NC_000011.9:g.68535548_68535561dup, NC_000011.9:g.68535547_68535561dup, NC_000011.9:g.68535546_68535561dup, NC_000011.9:g.68535541_68535561dup, NC_000011.9:g.68535537_68535561dup, NC_000011.9:g.68535561_68535562insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011801.1:g.78849_78865del, NG_011801.1:g.78850_78865del, NG_011801.1:g.78851_78865del, NG_011801.1:g.78852_78865del, NG_011801.1:g.78853_78865del, NG_011801.1:g.78854_78865del, NG_011801.1:g.78855_78865del, NG_011801.1:g.78856_78865del, NG_011801.1:g.78857_78865del, NG_011801.1:g.78858_78865del, NG_011801.1:g.78859_78865del, NG_011801.1:g.78860_78865del, NG_011801.1:g.78861_78865del, NG_011801.1:g.78862_78865del, NG_011801.1:g.78863_78865del, NG_011801.1:g.78864_78865del, NG_011801.1:g.78865del, NG_011801.1:g.78865dup, NG_011801.1:g.78864_78865dup, NG_011801.1:g.78863_78865dup, NG_011801.1:g.78862_78865dup, NG_011801.1:g.78861_78865dup, NG_011801.1:g.78860_78865dup, NG_011801.1:g.78859_78865dup, NG_011801.1:g.78858_78865dup, NG_011801.1:g.78857_78865dup, NG_011801.1:g.78856_78865dup, NG_011801.1:g.78854_78865dup, NG_011801.1:g.78853_78865dup, NG_011801.1:g.78852_78865dup, NG_011801.1:g.78851_78865dup, NG_011801.1:g.78850_78865dup, NG_011801.1:g.78845_78865dup, NG_011801.1:g.78841_78865dup, NG_011801.1:g.78865_78866insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149105645019.

rs1491056450 has merged into rs369619747 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:68779502 (GRCh38)
11:68546970 (GRCh37)
Canonical SPDI:: NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:68779491:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.68779502_68779513del, NC_000011.10:g.68779504_68779513del, NC_000011.10:g.68779505_68779513del, NC_000011.10:g.68779506_68779513del, NC_000011.10:g.68779508_68779513del, NC_000011.10:g.68779509_68779513del, NC_000011.10:g.68779510_68779513del, NC_000011.10:g.68779512_68779513del, NC_000011.10:g.68779513del, NC_000011.10:g.68779513dup, NC_000011.10:g.68779512_68779513dup, NC_000011.10:g.68779511_68779513dup, NC_000011.10:g.68779510_68779513dup, NC_000011.10:g.68779509_68779513dup, NC_000011.10:g.68779508_68779513dup, NC_000011.10:g.68779507_68779513dup, NC_000011.10:g.68779503_68779513dup, NC_000011.10:g.68779496_68779513dup, NC_000011.10:g.68779494_68779513dup, NC_000011.9:g.68546970_68546981del, NC_000011.9:g.68546972_68546981del, NC_000011.9:g.68546973_68546981del, NC_000011.9:g.68546974_68546981del, NC_000011.9:g.68546976_68546981del, NC_000011.9:g.68546977_68546981del, NC_000011.9:g.68546978_68546981del, NC_000011.9:g.68546980_68546981del, NC_000011.9:g.68546981del, NC_000011.9:g.68546981dup, NC_000011.9:g.68546980_68546981dup, NC_000011.9:g.68546979_68546981dup, NC_000011.9:g.68546978_68546981dup, NC_000011.9:g.68546977_68546981dup, NC_000011.9:g.68546976_68546981dup, NC_000011.9:g.68546975_68546981dup, NC_000011.9:g.68546971_68546981dup, NC_000011.9:g.68546964_68546981dup, NC_000011.9:g.68546962_68546981dup, NG_011801.1:g.67429_67440del, NG_011801.1:g.67431_67440del, NG_011801.1:g.67432_67440del, NG_011801.1:g.67433_67440del, NG_011801.1:g.67435_67440del, NG_011801.1:g.67436_67440del, NG_011801.1:g.67437_67440del, NG_011801.1:g.67439_67440del, NG_011801.1:g.67440del, NG_011801.1:g.67440dup, NG_011801.1:g.67439_67440dup, NG_011801.1:g.67438_67440dup, NG_011801.1:g.67437_67440dup, NG_011801.1:g.67436_67440dup, NG_011801.1:g.67435_67440dup, NG_011801.1:g.67434_67440dup, NG_011801.1:g.67430_67440dup, NG_011801.1:g.67423_67440dup, NG_011801.1:g.67421_67440dup

Select item 149101469420.

rs1491014694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGG>-,TGTGTGTGTGTGGTGTGTGTGTGTGG [Show Flanks]
Chromosome:: 11:68817171 (GRCh38)
11:68584639 (GRCh37)
Canonical SPDI:: NC_000011.10:68817156:GTGTGTGTGTGTGGTGTGTGTGTGTGG:GTGTGTGTGTGTGG,NC_000011.10:68817156:GTGTGTGTGTGTGGTGTGTGTGTGTGG:GTGTGTGTGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTGG
Gene:: CPT1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGGTGTGTGTGTGTGGTGTGTGTGTGTGG=0./0 (ALFA)
-=0.000036/1 (TOMMO)
GTGTGTGTGTGTG=0.000116/12 (GnomAD)
HGVS:: NC_000011.10:g.68817158TGTGTGTGTGTGG[1], NC_000011.10:g.68817158TGTGTGTGTGTGG[3], NC_000011.9:g.68584626TGTGTGTGTGTGG[1], NC_000011.9:g.68584626TGTGTGTGTGTGG[3], NG_011801.1:g.29750CACACACACACAC[1], NG_011801.1:g.29750CACACACACACAC[3]

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